Mutation Screening of the Factor VIII Gene in Hemophilia A in Saudi Arabia: Two Novel Mutations and Genotype-Phenotype Correlation
نویسندگان
چکیده
Mutation Screening of the Factor VIII Gene in Hemophilia A in Saudi Arabia: Two Novel Mutations and Genotype-Phenotype Correlation Faisal A Al-Allaf1,2,3#, Mohiuddin M Taher3#*, Zainularifeen Abduljaleel3, Mohammad Athar3, Faisal A Ba-hammam3, Munir Abdulla3, Abdellatif Bouazzaoui3, Halah Abalkhail4 and Tarek MA Owaidah4* 1Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah, Saudi Arabia 2Molecular Diagnostics Unit, Department of Laboratory Medicine and Blood Bank, King Abdullah Medical City, Makkah, Saudi Arabia 3Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia 4Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia #Equal first authors
منابع مشابه
Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
متن کاملMolecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
BACKGROUND Hemophilias A and B are X-linked bleeding disorders caused by mutations in the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulation. METHODS For genotyping, blood samples from...
متن کاملMolecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...
متن کاملThe Effects of Novel Mutations in A1 Domain of Human Coagulation Factor VIII on Its Secretion Level in Cultured Mammalian Cells
Inefficient secretion of the human coagulation factor (hFVIII) in mammalian expression systems is one ofthe main causes of the hFVIII low expression level, attributed to its interaction with a chaperone known asBiP/GRP78. In order to improve secretion efficiency of the hFVIII, based on the higher secretion level of theporcine FVIII and analysis of the hFVIII A110 region, that ...
متن کاملCombined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics.
A Thai woman, with no family history of bleeding disorders, presented with excessive bleeding after minor trauma and tooth extraction. The screening coagulogram revealed prolonged activated partial thromboplastin time and prothrombin time. The specific-factor assay confirmed the diagnosis of combined factor V and factor VIII deficiency (F5F8D). Her plasma levels of factor V and factor VIII were...
متن کامل